Canonical Allele Identifier: CA387757819

Gene: BRCA2

Linked Data

• MyVariant Identifiers: chr13:g.32954158T>G (hg19) ; chr13:g.32380021T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380021T>G , CM000675.2:g.32380021T>G	GRCh38
NC_000013.10:g.32954158T>G , CM000675.1:g.32954158T>G	GRCh37
NC_000013.9:g.31852158T>G	NCBI36
NG_012772.3:g.69542T>G , LRG_293:g.69542T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9132T>G	ENSP00000434898.2:p.Ile3044Met
ENST00000528762.2:c.*499T>G	ENSP00000433168.2:n.*499T>G
ENST00000530893.7:c.8763T>G	ENSP00000499438.2:p.Ile2921Met
ENST00000665585.2:c.*694T>G	ENSP00000499570.2:n.*694T>G
ENST00000666593.2:c.9132T>G	ENSP00000499256.2:p.Ile3044Met
ENST00000700202.2:c.9081T>G	ENSP00000514856.2:p.Ile3027Met
ENST00000700202.1:c.1548T>G	ENSP00000514856.1:p.Ile516Met
ENST00000700203.1:n.1259T>G
ENST00000380152.8:c.9132T>G MANE Select	ENSP00000369497.3:p.Ile3044Met
ENST00000544455.6:c.9132T>G	ENSP00000439902.1:p.Ile3044Met
ENST00000614259.2:c.9140T>G	ENSP00000506251.1:n.9140T>G
ENST00000665585.1:c.2010T>G
ENST00000666593.1:c.15T>G	ENSP00000499256.1:p.Ile5Met
ENST00000680887.1:c.9132T>G	ENSP00000505508.1:p.Ile3044Met
ENST00000380152.7:c.9132T>G	ENSP00000369497.3:p.Ile3044Met
ENST00000470094.1:c.89T>G
ENST00000544455.5:c.9132T>G	ENSP00000439902.1:p.Ile3044Met
NM_000059.3:c.9132T>G , LRG_293t1:c.9132T>G	NP_000050.2:p.Ile3044Met
XM_011535203.1:c.9132T>G	XP_011533505.1:p.Ile3044Met
XM_011535204.1:c.9036T>G	XP_011533506.1:p.Ile3012Met
NM_000059.4:c.9132T>G MANE Select	NP_000050.3:p.Ile3044Met